Kaedah Diagnostik Semasa dan Penggunaan Ujian Titik Penjagaan Pantas (POC)  Bagi Mendiagnos Hiperkolesterolemia Famili (FH) (Current Diagnostic Techniques and the Use of Rapid Point-of-Care (POC) Testing to  Diagnose Familial Hypercholesterolemia (FH))

Lina Khialida Saidi; Zam Zureena MD Rani; Siti Aishah Silaiman; Ismail Aziah; Anis Amirah Alim; Sharipah Nadzirah Syed Ahmad Ayob; Dee Chang FU; Azrul Azlan Hamzah; Nor Azian Abdul Murad

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Kaedah Diagnostik Semasa dan Penggunaan Ujian Titik Penjagaan Pantas (POC) Bagi Mendiagnos Hiperkolesterolemia Famili (FH) (Current Diagnostic Techniques and the Use of Rapid Point-of-Care (POC) Testing to Diagnose Familial Hypercholesterolemia (FH))

Author: LINA KHIALIDA SAIDI ¹ ; ZAM ZUREENA MD RANI ¹ ; SITI AISHAH SILAIMAN ¹ ; ISMAIL AZIAH ¹ ; ANIS AMIRAH ALIM ¹ ; SHARIPAH NADZIRAH SYED AHMAD AYOB ¹ ; DEE CHANG FU ¹ ; AZRUL AZLAN HAMZAH ¹ ; NOR AZIAN ABDUL MURAD ¹
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1. Institut Kejuruteraan Mikro dan Nanoelektronik, Aras 4, Kompleks Penyelidikan, Universiti Kebangsaan Malaysia, 43600, Bangi, Selangor, Malaysia.
Publication Type:Journal Article
Keywords: Familial hypercholesterolemia; diagnostic tool; point of care; genetic testing; lateral flow assay
From:Malaysian Journal of Health Sciences 2023;21(No.2):35-45
CountryMalaysia
Language:English
Abstract: Familial hypercholesterolemia (FH) is an autosomal dominant inherited genetic disease characterized by increased concentrations of low-density lipoprotein (LDL-C) cholesterol in the blood. The risk of premature coronary heart disease in FH patients may increase without early treatment. Advancement in molecular biology techniques has enable early detection and diagnosis of FH. These techniques are cost-effective and have a shorter turnaround time. The current diagnostic tools available for FH diagnosis involving algorithm-based scoring criteria and various molecular diagnosis methods including next-generation sequencing (NGS), Sanger sequencing, Multiplex ligation-dependent probe amplification (MLPA) and DNA hybridisation assay are discussed in this review. However, molecular genetic testing is not widely available due to time-consuming procedures, high cost and requires trained personnel. Thus, this 36 review highlights the use of point of care (POC) testing as an approach to diagnose FH, particularly in countries lacking infrastructure and expertise in this field. Lateral flow testing (LFA) has gained attention as a POC diagnostic tool due to its simplicity, low cost and involved simple procedure and settings. The advantages of LFA made this technique a potential tool in addressing challenges in diagnosing FH, particularly for early diagnosis of family members.
Full text:14.2023my0442.pdf